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Childhood Onset Dystonias

MedGen UID:
199837
•Concept ID:
C0752202
•
Disease or Syndrome
Synonyms: Childhood Onset Dystonia; Dystonia, Childhood Onset; Dystonias, Childhood Onset

Professional guidelines

PubMed

Diagnosis and Treatment of Essential Tremor.
Wagle Shukla A
Continuum (Minneap Minn) 2022 Oct 1;28(5):1333-1349. doi: 10.1212/CON.0000000000001181. PMID: 36222768
Autoimmune encephalitis: proposed best practice recommendations for diagnosis and acute management.
Abboud H, Probasco JC, Irani S, Ances B, Benavides DR, Bradshaw M, Christo PP, Dale RC, Fernandez-Fournier M, Flanagan EP, Gadoth A, George P, Grebenciucova E, Jammoul A, Lee ST, Li Y, Matiello M, Morse AM, Rae-Grant A, Rojas G, Rossman I, Schmitt S, Venkatesan A, Vernino S, Pittock SJ, Titulaer MJ; Autoimmune Encephalitis Alliance Clinicians Network
J Neurol Neurosurg Psychiatry 2021 Jul;92(7):757-768. Epub 2021 Mar 1 doi: 10.1136/jnnp-2020-325300. PMID: 33649022Free PMC Article
Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society.
Bhatia KP, Bain P, Bajaj N, Elble RJ, Hallett M, Louis ED, Raethjen J, Stamelou M, Testa CM, Deuschl G; Tremor Task Force of the International Parkinson and Movement Disorder Society
Mov Disord 2018 Jan;33(1):75-87. Epub 2017 Nov 30 doi: 10.1002/mds.27121. PMID: 29193359Free PMC Article

Recent clinical studies

Etiology

Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.
Tarrano C, Galléa C, Delorme C, McGovern EM, Atkinson-Clement C, Brochard V, Thobois S, Tranchant C, Grabli D, Degos B, Corvol JC, Pedespan JM, Krystkowiak P, Houeto JL, Degardin A, Defebvre L, Beranger B, Martino D, Apartis E, Vidailhet M, Roze E, Worbe Y
Sci Rep 2024 Sep 27;14(1):22341. doi: 10.1038/s41598-024-73386-9. PMID: 39333780Free PMC Article
Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.
Tsagkaris S, Yau EKC, McClelland V, Papandreou A, Siddiqui A, Lumsden DE, Kaminska M, Guedj E, Hammers A, Lin JP
Brain 2023 Jun 1;146(6):2512-2523. doi: 10.1093/brain/awac439. PMID: 36445406Free PMC Article
Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.
Trau SP, Gallentine WB, Mikati MA
Neurology 2020 Feb 18;94(7):326-328. Epub 2020 Feb 3 doi: 10.1212/WNL.0000000000008963. PMID: 32015175
Gross motor function outcomes following deep brain stimulation for childhood-onset dystonia: A descriptive report.
Tustin K, Elze MC, Lumsden DE, Gimeno H, Kaminska M, Lin JP
Eur J Paediatr Neurol 2019 May;23(3):473-483. Epub 2019 Feb 21 doi: 10.1016/j.ejpn.2019.02.005. PMID: 30846371

Diagnosis

Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.
Tsagkaris S, Yau EKC, McClelland V, Papandreou A, Siddiqui A, Lumsden DE, Kaminska M, Guedj E, Hammers A, Lin JP
Brain 2023 Jun 1;146(6):2512-2523. doi: 10.1093/brain/awac439. PMID: 36445406Free PMC Article
Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.
Trau SP, Gallentine WB, Mikati MA
Neurology 2020 Feb 18;94(7):326-328. Epub 2020 Feb 3 doi: 10.1212/WNL.0000000000008963. PMID: 32015175

Therapy

Child Neurology: A young child with an undiagnosed case of dystonia responsive to l-dopa.
Trau SP, Gallentine WB, Mikati MA
Neurology 2020 Feb 18;94(7):326-328. Epub 2020 Feb 3 doi: 10.1212/WNL.0000000000008963. PMID: 32015175

Prognosis

Gross motor function outcomes following deep brain stimulation for childhood-onset dystonia: A descriptive report.
Tustin K, Elze MC, Lumsden DE, Gimeno H, Kaminska M, Lin JP
Eur J Paediatr Neurol 2019 May;23(3):473-483. Epub 2019 Feb 21 doi: 10.1016/j.ejpn.2019.02.005. PMID: 30846371

Clinical prediction guides

Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia.
Tsagkaris S, Yau EKC, McClelland V, Papandreou A, Siddiqui A, Lumsden DE, Kaminska M, Guedj E, Hammers A, Lin JP
Brain 2023 Jun 1;146(6):2512-2523. doi: 10.1093/brain/awac439. PMID: 36445406Free PMC Article
Gross motor function outcomes following deep brain stimulation for childhood-onset dystonia: A descriptive report.
Tustin K, Elze MC, Lumsden DE, Gimeno H, Kaminska M, Lin JP
Eur J Paediatr Neurol 2019 May;23(3):473-483. Epub 2019 Feb 21 doi: 10.1016/j.ejpn.2019.02.005. PMID: 30846371

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